| Using Multiplexed Functional Data to Reduce the VUS Burden in Populations Underrepresented in Genomic Medicine |
Dawood, Moez |
ACMG - American College of Medical Genetics and Genomics |
March 12-16, 2024 |
|
Featured Platform Presentations: 14-Mar-2024 8:00 AM |
| Diagnostic Utility of Genome-wide DNA Methylation Screening to Identify Molecular Causes of Genetically Unsolved Developmental and Epileptic Encephalopathies |
LaFlamme, Christy |
ASHG - American Society of Human Genetics Annual Meeting |
Nov 1-5, 2023 |
|
Sat Nov 4 10:45am-11am Presenter 004 |
| Relative contribution of variant prioritization and phenotype similarity to performance of automatic genome analysis algorithms |
Khanam, Shirin |
ASHG - American Society of Human Genetics Annual Meeting |
Nov 1-5, 2023 |
|
PB3269 |
| Most genes are predicted to be Mendelian disease genes: implications for rare and common diseases |
Chong, Jessica |
ASHG - American Society of Human Genetics Annual Meeting |
Nov 1-5, 2023 |
|
PB4876 |
| Expanding the range of WNT signaling syndromes: a promoter variant in WNT9B is a candidate in a case with Femoral Facial syndrome. |
Marvin, Colby |
ASHG - American Society of Human Genetics Annual Meeting |
November 1-5, 2023 |
|
PB4755 |
| Making the call: Trends among successful strategies to conclude the diagnostic odyssey for participants at the Pacific Northwest Undiagnosed Diseases Network clinical site. |
Blue, Elizabeth |
ASHG - American Society of Human Genetics Annual Meeting |
November 1-5, 2023 |
|
PB3237 |
| Genomic Rare Variant Mechanisms for Congenital Cardiac Laterality Defect: A Digenic Model Approach. |
Rai, Archana |
ASHG - American Society of Human Genetics Annual Meeting |
November 1-5, 2023 |
|
PB1568 |
| Genomic analyses of 281 consanguineous kindreds from the Middle East and North Africa facilitate the discovery of novel recessive neurodevelopmental rare disease traits |
Duan, Ruizhi |
ASHG - American Society of Human Genetics Annual Meeting |
November 1-5, 2023 |
|
PB4786 |
| Clinical exome sequencing efficacy and phenotypic expansions in Congenital Anomalies of Kidney and Urinary Tract (CAKUT) |
Rivera-Munoz, Andres |
ASHG - American Society of Human Genetics Annual Meeting |
November 1-5, 2023 |
|
2023-A-1625-ASHG |
| Unraveling the Intrafamilial Phenotypic Variability in Sibling Pairs with Neurodevelopmental Diseases |
Bozkurt-Yozgatli, Tugce |
ASHG - American Society of Human Genetics Annual Meeting |
November 1-5, 2023 |
|
2023-A-3286-ASHG |
| A VUS re-analysis: Understanding the likely disease-mechanism of a de novo missense variant in RALA using public bioinformatic tools |
Wiel, Laurens |
ASHG - American Society of Human Genetics Annual Meeting |
November 1-5, 2023 |
|
PB1019 |
| Novel molecular diagnoses in individuals with holoprosencephaly and prior negative sequencing |
Cohen, Andrea J. |
ASHG - American Society of Human Genetics Annual Meeting |
Nov 1-5, 2023 |
|
2023-A-3728-ASHG |
| Driver project for advancing long-read de novo genome assembly methods in clinical research |
Délot, Emmanuèle |
ASHG |
Nov 1-5, 2023 |
|
2023-A-4146-ASHG |
| Heterozygous Loss-of-Function Variants in SMC3: Lessons for the ‘Medium-Hanging Fruit’ Era of Mendelian Disease Gene Discovery |
Boone, Philip |
ASHG - American Society of Human Genetics Annual Meeting |
Nov 1-4, 2023 |
|
2023-A-1559-ASHG |
| NODAL variation is associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy |
Dardas, Zain |
ASHG - American Society of Human Genetics Annual Meeting |
November 1-5, 2023 |
|
2023-A-4057-ASHG |
